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On September 27th, 2018 Family Tree DNA published the largest Y haplotree in the world, based on SNP tests taken by customers. Now, less than two weeks later, they’ve added an exhaustive mitochondrial DNA (mtDNA) public haplotree as well, making this information universally available to everyone.

Family Tree DNA’s mtDNA Haplotree is based on the latest version of the mtDNA Phylotree. The new Family Tree DNA tree includes 5,434 branches derived from more than 150,000 full sequence results from 180+ different countries of origin. Family Tree DNA‘s tree has SIX TIMES more samples than the Phylotree. Furthermore, Family Tree DNA only includes full sequence results, where Phylotree includes partial results.

This new tree is a goldmine! What does it provide that that’s unique? Locations – lots of locations!

The Official Phylotree

Unlike the Y DNA tree, which is literally defined and constructed by the genetic community, new mitochondrial DNA branches cannot be added to the official mitochondrial Phylotree by Family Tree DNA. Haplogroups, meaning new branches in the form of SNPs are added to the Y tree as new SNPs are discovered and inserted into the tree in their proper location. The mitochondrial DNA phylotree can’t be expanded by a vendor in that manner.

The official mitochondrial Phylotree is maintained at www.phylotree.org and is episodically updated. The most recent version was mtDNA tree build 17, published and updated in February 2016. You can view version history here.

Mitochondrial Phylogenic Tree Version 17

Version 17 of the official mitochondrial tree consists of approximately 5,400 nodes, or branches with a total of 24,275 samples uploaded by both private individuals and academic researchers which are then utilized to define haplogroup branches.

Individuals can upload their own full sequence results from Family Tree DNA, but they must be in a specific format. I keep meaning to write detailed instructions about how to submit your full sequence test results, but so far, that has repeatedly slipped off of the schedule. I’ll try to do this soon.

In a nutshell, download your FASTA file from Family Tree DNA and continue with the submission process here. The instructions are below the submission box, so scroll down.

In any case, the way that new branches are added to the phylotree is when enough new results with a specific mutation are submitted and evaluated, the tree will have a new branch added in the next version. That magic number of individuals with the same mutation was 3 in the past, but now that so many more people are testing, I’m not sure if that number holds, or if it should. Spontaneous mutations can and do happen at the same location. The Phylotree branches mean that the haplogroup defining mutations indicate a common ancestor, not de novo separate mutations. That’s why analysis has to be completed on each candidate branch.

How do Mitochondrial DNA Branches Work?

If you are a member of haplogroup J1c2f today, and a certain number of people in that haplogroup have another common mutation, that new mutation may be assigned the designation of 1, as in J1c2f1, where anyone in haplogroup J1c2f who has that mutation will be assigned to J1c2f1.

While the alternating letter/number format is very easy to follow, some problems and challenges do exist with the alternating letter/number haplogroup naming system.

The Name of the Game

The letter number system works fine if not many new branches are added, branches don’t shuffle and if the growth is slow. However, that’s not the case anymore.

If you recall, back in July of 2012, which is equivalent to the genetic dark ages (I know, right), the Y tree was also represented with the same type of letter number terminology used on the mitochondrial tree today.

For example, Y DNA haplogroup R-M269 was known as R1b1a2, and before that the same haplogroup was known as R1b1c. The changes occurred because so many new haplgroups were being discovered that a new sprout wasn’t added from time to time, but entire branches had to be sawed off and either discarded or grafted elsewhere. It became obvious that while the R1b1a2 version was nice, because it was visually obvious that R1b1a2a was just one step below R1b1a2, that long term, that format just wasn’t going to be able to work anymore. New branches weren’t just sprouting, wholesale shuffling was occurring. Believe it or not, we’re still on the frontier of genetic science.

In 2012, the change to the SNP based haplogroup designations was introduced by Family Tree DNA, and adopted within the community.

The ISOGG tree, the only tree that still includes the older letter/number system and creates extended letter number haplogroup names as new SNPs are added provides us with an example of how much the Y tree has grown.

You can see that the letter/number format haplogroups to the far right are 19 locations in length. The assigned SNP or SNPs associated with that haplogroup are shown as well. Those 19-digit haplogroup names are just too unwieldy, and new haplogroups are still being discovered daily.

It’s 2012 All Over Again

That’s where we are with mitochondrial DNA today, but unlike Y DNA naming, a vendor can’t just make that change to a terminal SNP based naming system because all vendors conform to the published Phylotree.

However, in this case, the vendor, Family Tree DNA has more than 6 times the number of full sequence mitochondrial results than the mitochondrial reference model Phylotree. If you look at the haplogroup projects at Family Tree DNA, you’ll notice that (some) administrators routinely group results by a specific mutation that is found within a named haplogroup, meaning that the people with the mutation form a subgroup that they believe is worthy of its own haplogroup subgroup name. The problem is that unless enough people upload their results to Phylotree, that subgroup will never be identified, so a new haplogroup won’t be added.

If the entire Family Tree DNA data base were to be uploaded to Phylotree, can you imagine how many new haplogroups would need to be formed? Of course, Family Tree DNA can’t do that, but individual testers can and should.

Challenges for Vendors

The challenge for vendors is that every time the phylotree tree is updated and a new version is produced, the vendors must “rerun” their existing tester samples against the new haplogroup defining mutations to update their testers’ haplogroup results.

In some cases, entire haplogroups are obsoleted and branches moved, so it’s not a simple matter of just adding a single letter or digit. Rearranging occurs, and will occur more and more, the more tests that are uploaded to Phylotree.

For example, in the Phylotree V17 update, haplogroup A4a1 became A1a. In other words, some haplogroups became entirely obsolete and were inserted onto other branches of the tree.

In the current version of the Phylotree, haplogroup A4 has been retired.

Keep in mind that all haplogroup assignments are the cumulative combination of all of the upstream direct haplogroups. That means that haplogroup A4a1, in the prior version, had all of the haplogroup defining mutations shown in bold in the chart below. In the V17 version, haplogroup A1a contains all of the mutations shown in bold red. You might notice that the haplogroup A4 defining mutation T16362C is no longer included, and haplogroup A4, plus all 9 downstream haplogroups which were previously dependent on T16362C have been retired. A4a1 is now A1a.

Taking a look at the mitochondrial tree in pedigree fashion, we can see haplogroup A4a1 in Build 15 from September 2012, below.

Followed by haplogroup A1a in the current Build 17.

Full Sequence Versus Chip Based Mitochondrial Testing

While Family Tree DNA tests the full sequence of their customers who purchase that level of testing, other vendors don’t, and these changes wreak havoc for those vendors, and for compatibility for customer attempting to compare between data bases and information from different vendors.

That means that without knowing which version of Phylotree a vendor currently uses, you may not be able to compare meaningfully with another user, depending on changes that occurred that haplogroup between versions. You also need to know which vendor each person utilized for testing and if that vendor’s mitochondrial results are generated from an autosomal style chip or are actually a full mitochondrial sequence test. Utilizing the ISOGG mtDNA testing comparison chart, here’s a cheat sheet.

Vendor

No Mitochondrial

Chip based haplogroup only mitochondrial

Full Sequence mitochondrial

Family Tree DNA

No

Yes – V17

23andMe

Yes – Build V7

No

Ancestry

None

LivingDNA

Yes – Build V17

No

MyHeritage

None

Genographic V2

Yes – Build V16

No

Of the chip-based vendors, 23andMe is the most out of date, with V7 extending back to November of 2009. The Genographic Project has done the best job of updating from previous versions. LivingDNA entered the marketplace in 2016, utilizing V17 when they began.

Family Tree DNA’s mitochondrial test is not autosomal chip based, so they don’t encounter the problem of not having tested needed locations because they test all locations. They have upgraded their customers several times over the years, with the current version being V17.

Family Tree DNA’s mitochondrial DNA test is a separate test from their Family Finder autosomal test while the chip-based vendors provide a base-level haplogroup designation that is included in their autosomal product. However, for chip-based vendors, updating that information can be very challenging, especially when significant branch changes occur.

SNP based mitochondrial and Y DNA testing for basic haplogroups that some vendors include with autosomal DNA is a mixed blessing. The up side, you receive a basic haplogroup. The down aide, the vendor doesn’t test anyplace near all of the 16,569 mitochondrial DNA SNP locations.

Let’s say that a vendor tests approximately 4000 mitochondrial DNA SNPs on the autosomal chip that you submit for autosomal DNA testing. First, that’s 4000 locations they can’t use for autosomal SNPs, because a DNA chip has a finite number of locations that can be utilized.

Secondly, and more importantly, it’s devilishly difficult to “predict” haplogroups at a detailed level correctly. Therefore, some customers receive a partial haplogroup, such as J1c, and some receive more detail.

It’s even more difficult, sometimes impossible, to update haplogroups when new Phylotree versions are released.

Why is Haplogroup Prediction and Updating so Difficult?

The full mitochondrial DNA sequence is 16,569 locations in length, plus or minus insertions and deletions. The full sequence test does exactly what that name implies, tests every single location.

Now, let’s say, by way of example, that location 10,000 isn’t used to determine any haplogroup today, so the chip-based vendors don’t test it. They only have room for 4000 of those locations on their chip, so they must use them wisely. They aren’t about to waste one of those 4000 spaces on a location that isn’t utilized in haplogroup determination.

Let’s say in the next release, V2, that location 10,000 is now used for just one haplogroup definition, but the haplogroup assignment still works without it. In other words, previously to define that haplogroup, location 9000 was used, and now a specific value at location 10,000 has been added. Assuming you have the correct value at 9,000, you’re still golden, even if the vendor doesn’t test location 10,000. No problem.

However, in V3, now there are new haplogroup subgroups in two different branches that use location 10,000 as a terminal SNP. A terminal SNP is the last SNP in line that define your results most granularly. In haplogroup J1c2f, the SNP(s) that define the f are my terminal SNPs. But if the vendor doesn’t test location 10,000, then the mutation there can’t be used to determine my terminal SNP, and my full haplogroup will be incomplete. What now?

If location 10,000 isn’t tested, the vendor can’t assign those new haplogroups, and if any other haplogroup branch is dependent on this SNP location, they can’t be assigned correctly either. Changes between releases are cumulative, so the more new releases, the further behind the haplogroup designations become.

Multiple problems exist:

Even if those vendors were to recalculate their customer’s results to update haplogroups, they can’t report on locations they never tested, so their haplogroup assignments become increasingly outdated.

To update your haplogroup when new locations need to be tested, the vendor would have to actually rerun your actual DNA test itself, NOT just update your results in the data base. They can’t update results for locations they didn’t test.

Without running the full mitochondrial sequence, the haplogroup can never be more current than the locations on the vendor’s chip at the time the actual DNA test is run.

No vendor runs a full sequence test on an autosomal chip. A full mitochondrial sequence test at Family Tree DNA is required for that.

Furthermore, results matching can’t be performed without the type of test performed at Family Tree DNA, because people carry mutations other than haplogroup defining mutations. Haplogroup only information is entertaining and can sometimes provide you with base information about the origins of your ancestor (Native, African, European, Asian,) but quickly loses its appeal because it’s not specific, can’t be used for matching and can’t reliably be upgraded.

The lack of complete testing also means that while Family Tree DNA can publish this type of tree and contribute to science, the other vendors can’t.

To view the tree, click here, but do NOT sign in to your account. Simply scroll to the bottom of the page where you will see the options for both the Y DNA Haplotree and the mtDNA Haplotree under the Community heading.

Click on mtDNA Haplotree.

If you are a Family Tree DNA customer, you can view both the Y and mitochondrial trees from your personal page as well. You don’t have to have taken either the Y or mitochondrial DNA tests to view the trees.

Browsing the mtDNA Tree

Across the top, you’ll see the major haplogroups.

I’m using haplogroup M as an example, because it’s far up the tree and has lots of subgroups. Only full sequence results are shown on the tree.

You can view the tree in two formats, countries or variants, in the upper left-hand corner. View is not the same thing as search.

When viewing the mitochondrial DNA phylotree by country, we see that haplogroup M has a total of 1339 entries, which means M and everything below M on the tree.

However, the flags showing in the M row are only for people whose full mitochondrial sequence puts them into M directly, with no subgroup.

As you can see, there are only 12: 6 people in Australia, and one in 5 other countries. These are the locations of the most distant known ancestor of those testers. If they have not completed the maternal Country of Origin on the Earliest Known Ancestor tab, nothing shows for the location.

Viewing the tree by variant shows the haplogroup defining mutations, but NOT any individual mutations beyond those that are haplogroup defining.

For each haplogroup, click on the three dots to the right to display the country report for that haplogroup.

The Country Report

The Country Report provides three columns.

The column titled Branch Participants M shows only the total of people in haplogroup M itself, with no upstream or downstream results, meaning excluding M1, M2, etc. Just the individuals in M itself. Be sure to note that there may be multiple pages to click through, at bottom right.

The second column, Downstream Participants – M and Downstream (Excluding other Letters) means the people in haplogroup M and M subclades. You may wonder why this column is included, but realize that branches of haplogroup M include haplogroups G, Q, C, Z, D and E. The middle column only includes M and subgroups that begin with M, without the others, meaning M, M10, M11 but not G, Q, etc.

Of course the final column, All Downstream Participants – M and Downstream (Including other Letters) shows all of the haplogroup M participants, meaning M and all subclades, including all other haplogroups beneath M, such as M10, G, Q, etc..

What Can I Do with This Information?

Unlike the companion Y tree DNA, since surnames change every generation for maternal lineages, there is no requirement to have multiple matching surnames on a branch to be displayed.

Therefore, every person who includes a location for a most distant known ancestor is included in the tree, but surnames are not.

I want to see, at a glance, where the other people in my haplogroup, and the haplogroups that are the “direct ancestral line” of mine are found today. Clusters may mean something genealogically or are at least historically important – and I’ll never be able to view that information any other way. In fact, before this tree was published, I wasn’t able to see this at all. Way to go Family Tree DNA!!

It’s very unlikely that I’ll match every person in my haplogroup – but the history of that haplogroup and all of the participants in that haplogroup are important to that historical lineage of my family. At one time, these people all shared one ancestor and determining when and where that person lived is relevant to my family story.

Searching for Your Haplogroup

I’m searching for haplogroup J1c2f by entering J1c2f in the “Go to Branch Name.”

There it is.

I can see that there are 17 people in Sweden, 13 in Norway, 5 in Germany, 3 in Russia, etc. What’s with the Scandinavian cluster? My most distant known ancestor was found in Germany. There’s something to be learned here that existing records can’t tell me!

The mother branch is J1c2 which shows the majority of individuals in Ireland followed by England. This probably suggests that while J1c2f may have been born in Scandinavia, J1c2 probably was not. According to the supplement to Dr. Doron Behar’s paper, A “Copernican” Reassessment of the Human Mitochondrial DNA tree from its Root, which provides ages for some mitochondrial DNA haplogroups:

Haplogroup

How Old

Standard Deviation

Approximate Age Range in Years

J1c2

9762

2010

7,752 – 11,772

J1c2f

1926

3128

500 – 5,054

I happen to know from communicating with my matches that the haplogroup J1c2f was born more than 500 years ago because my Scandinavian mito-cousins know where their J1c2f cousin was then, and so do I. Mine was in Germany, so we know our common ancestor existed sometime before that 500 year window, and based on our mutations and the mutation tree we created, probably substantially before that 500 year threshold.

Given that J1c2, which doesn’t appear to have been born in Scandinavia is at least 7,700 years old, we can pretty safely conclude that my ancestor wasn’t in Scandinavia roughly 9,000 years ago, but was perhaps 2,000 years, ago when J1c2f was born. What types of population migration and movement happened between 2,000 and 9,000 years ago which would have potentially been responsible for the migration of a people from someplace in Europe into Scandinavia.

The first hint might be that in the Nordic Bronze Age, trade with European cultures became evident, which of course means that traders themselves were present. Scandinavian petroglyphs dating from that era depict ships and art works from as far away as Greece and Egypt have been found.

The climate in Scandinavia was warm during this period, but later deteriorated, pushing the Germanic tribes southward into continental Europe about 3000 years ago. Scandinavian influence was found in eastern Europe, and numerous Germanic tribes claimed Scandinavian origins 2000 years ago, including the Bergundians, Goths, Heruls and Lombards.

Hmmm, that might also explain how my mitochondrial DNA, in the form of my most distant known ancestor arrived in Germany, as well as the distribution into Poland.

Is this my family history? I don’t know for sure, but I do know that the clustering information on the new phylotree provides me with clustering data to direct my search for a historical connection.

The next few steps aren’t related to actually having your results displayed on the phylotree, but they are important to taking full advantage of the power of testing.

While viewing your account information, click on the Privacy and Sharing tab, and select to participate in matching, under Matching Preferences.

Also consent to Group Project Sharing AND allow your group project administrators to view your full sequence matches so that they can group you properly in any projects that you join. You full sequence mutations will never be shown publicly, only to administrators.

Join a project relevant to your haplogroup, such as the J project for haplogroup J. To join a project, click on myProjects at the top of the page, then on Join Projects.

To view available haplogroup projects, scroll down to the bottom of the screen that shows you available projects to join, and click on the letter of your haplogroup in the MTDNA Haplogroup Projects section.

Locate the applicable haplogroup, then click through to join the project.

These steps assure that you’ve maximized the benefits of your mitochondrial results for your own research and to your matches as well. Collaborative effort in completing geographic and known ancestor information means that we can all make discoveries.

Now, go and see who you match, where your closest matches cluster, and on the new mtDNA Haplotree, what kind of historical ancestral history your locations may reveal. What’s waiting for you?

_____________________________________________________________________

Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

I provide Personalized DNA Reports for Y and mitochondrial DNA results for people who have tested through Family Tree DNA. I provide Quick Consults for DNA questions for people who have tested with any vendor. I would welcome the opportunity to provide one of these services for you.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

To upload your DNA to MyHeritage, click here and then click on the purple “Start” button.

Upload Step 1 If You Already Have an Account at MyHeritage

If you already have an account, click here to sign in and then click on the DNA tab to display the “Upload DNA Data” option which displays the graphic above. Click on the purple “Start” button. This is the same process you’ll use whether it’s the first time you’ve uploaded a kit, or you’re uploading subsequent kits to your account that you’ll be managing.

Upload Step 2

You’ll be prompted to create a free account by entering your name, e-mail and password, and from there you can upload your autosomal DNA file.

You’ll be asked whose DNA you’re uploading and prompted to read and agree to the terms of service and consent.

Click the purple upload button.

Then click done when the file is finished uploading.

You’ll be notified by e-mail within a couple days when the file is finished processing.

Downloading FROM MyHeritage

Download Step 1

Sign on to your MyHeritage account.

Click on DNA on the upper toolbar.

The dropdown menu includes “Manage DNA Kits”

Download Step 2

At the right of the kit you wish to download, click on the three small buttons which will include an option for “Download,” as shown in the graphics below from the MyHeritage blog article.

Download Step 3

You’ll be presented with a box titled “Learn more about DNA data files.” Click the purple “Continue” button.

Download Step 4

You’ll need to confirm that you want to download your data, and that you understand that the download is outside of MyHeritage and their protection. Click the purple “Continue” button.

Download Step 5

You’ll receive a confirmation e-mail. Click on “Click here to continue with download.”

Transferring to MyHeritage is always free. You can view your ethnicity, your matches and their trees, and utilize the DNA tools, but you won’t receive the full benefit of SmartMatching and other records without a subscription. You will be limited to building a tree of 250 people for free, but you can upload a Gedcom file of any size, although you do need to subscribe to change anything in that file if it contains more than 250 individuals.

Until December 1, 2018, all DNA tools will be and remain free for anyone who uploads before that date. After December 1st, matching will remain free, but the advanced tools such as ethnicity, the chromosome browser, triangulation and more will require payment. MyHeritage has not yet indicated how that will work, so upload now to receive free DNA tools forever.

My testing/transfer recommendations are as follows relative to MyHeritage:

If you tested at Ancestry or Family Tree DNA, click here to transfer your results to MyHeritage. To read more about transferring Ancestry results to Family Tree DNA and for step-by-step instructions for downloading your Ancestry raw data file, click here.

If you tested at 23andMe and have the V3 or V4 test (before November 2017), transfer to both Family Tree DNA and MyHeritage. If you have the 23andMe V5 test (since November 2017), you can transfer to MyHeritage but not to Family Tree DNA.

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

I provide Personalized DNA Reports for Y and mitochondrial DNA results for people who have tested through Family Tree DNA. I provide Quick Consults for DNA questions for people who have tested with any vendor. I would welcome the opportunity to provide one of these services for you.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

I was very encouraged a few days ago when I received an email from MyHeritage stating that they have partnered with British Retailer WHSmith to sell their tests in retail stores in Europe. The new in-store products will be called the MyHeritage Family History Discovery Kit which will bundle the DNA test with a 3 month subscription of the Complete MyHeritage plan which combines Premium Plus, Data Subscription including historical records and DNA integration.

MyHeritage has not yet released the price, but I expect it will be competitive. I’m very grateful for the MyHeritage push into Europe and look forward to new European matches. My mother carries a very high percentage of both German and Dutch and matches from those countries have been slim. Retail marketing and an in-store presence may signal the end of that problem – at least I hope so.

The great news is that MyHeritage DNA matching supports filtering DNA matches by location.

MyHeritage Accepts Illumina GSA Chip Transfers

I’ve written before about the Illumina GSA chip and compatibility issues between the that chip and existing data produced on the other Illumina chips, including the chip utilized by both MyHeritage and Family Tree DNA. However, MyHeritage also just announced that they are accepting GSA file transfers, which means that people who have tested at the following vendors can now transfer their raw autosomal data results to MyHeritage for free.

23andMe began utilizing the Illumina GSA V5 chip in August 2017, so if you have tested since that time, you haven’t been able, until now, to upload to MyHeritage.

LivingDNA launched with the Illumina GSA chip, so if you have ever tested at LivingDNA, you haven’t been able to upload your raw data files. Now you can!

The good news is that the upload to MyHeritage, along with the MyHeritage DNA tools are free until December 1st, and will remain free for those who upload before that date. After that, MyHeritage will begin charging a fee or subscription for advanced features such as ethnicity estimates, the chromosome browser and other features. The $$ amount will be announced closer to December.

Of course, you can also upload results from Family Tree DNA, Ancestry and earlier versions of the 23andMe test.

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

I provide Personalized DNA Reports for Y and mitochondrial DNA results for people who have tested through Family Tree DNA. I provide Quick Consults for DNA questions for people who have tested with any vendor. I would welcome the opportunity to provide one of these services for you.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

You’re the same person, right, so why would you receive different answers from different testing companies, and which answer is actually right?

The answer is pretty straightforward, conceptually – having to do with how vendors test and interpret your DNA.

Different companies test different pieces of your DNA, depending on:

The type of chip the company is using for testing

The way they have programmed the chip

The version of the reference “tree” they are using to assign haplogroups

The level they have decided to report

Therefore, their haplogroups reported may vary, and some may be more exact than others. Occasionally, a vendor outside the major testers is simply wrong.

Not All Tests are Created Equal

All haplogroups carry interesting information and can be at least somewhat genealogically useful. For example, haplogroups alone can tell you if your direct line DNA (paternal or matrilineal) is probably European, Asian, African or Native American. Note the word probably. This too may be subject to interpretation.

A basic haplogroup can rule out a genealogical match through a specific branch, but can’t confirm a genealogical match. You need to compare specific DNA locations not provided with haplogroup testing alone for genealogical matching. Plus you’ll need to add genealogical records where possible.

Let’s look at two examples.

Mitochondrial DNA

Your mitochondrial DNA is inherited from your mother’s direct line, on up you tree until you run out of mothers. So, you, your mother, her mother, her mother…etc.

The red circles show the mitochondrial lineage in the pedigree chart, below.

If your mitochondrial haplogroup is H1a, for example, then your base haplogroup is “H”, the first branch is “1” and the next smaller branch is “a.”

Therefore, if you don’t match at H, your base haplogroup, you aren’t a possible match on that genealogical line. In other words, if you are H1a, or H plus anything, you can’t match on the direct matrilineal line of someone who is J1a, or J plus anything. H and J are different base haplogroups who haven’t shared a common ancestor in tens of thousands of years.

You can, however, potentially be related on any other line – just not on this specific line.

If your haplogroup does match, even exactly, that doesn’t mean you are related in a genealogically relevant timeframe. It means you share an ancestor, but that common ancestor may be back hundreds, thousands or even tens of thousands of years.

The further downstream, the younger the branches. “H” is the oldest, then “1,” then “a” is the youngest.

Some companies might just test the locations for H, some for H1 and some for H1a. Of course, there are even more haplogroups, like H1a2a. New, more refined haplogroups are discovered with each new version of the mitochondrial reference tree.

The only company that tests your haplogroup all the way to the end, meaning the most refined test possible to give you your complete haplogroup and all mutations, is Family Tree DNA with their mtFull Sequence test.

A quick comparison of my mitochondrial DNA at the following three vendors shows the following:

23andMe

Living DNA

Family Tree DNA Full Seqence

J1c2

J1c

J1c2f

With Family Tree DNA’s full sequence test, you’ll receive your full haplogroup along with matching to other people who have taken mitochondrial DNA tests. They are the only vendor to offer Y and mitochondrial matching, because they are the only vendor that tests at that level.

Y DNA

Y DNA operates on the same principle. Specific locations called SNPs are tested by companies like 23andMe and Living DNA to provide customers with a branch level haplogroup. You don’t receive matching with these types of tests.

Just like with mitochondrial DNA, a basic branch level test can eliminate a match on the direct paternal (surname) branch but can’t confirm the genealogical match.

If your haplogroup branch is E-M2 and someone else’s is R-M269, you can’t share a common paternal ancestor because your base haplogroups don’t match, meaning E and R.

You can share an ancestor on any other line, just not on the direct Y line.

The blue squares show the Y DNA lineage on the pedigree chart below.

Family Tree DNA predicts your haplogroup for free if you take the 37, 67 or 111 marker Y-DNA STR test, but if you take the Big Y-500, your Y chromosome is completely tested and your haplogroup defined to the most refined level possible (often called your terminal SNP) – including mutations that may exist in only very few people. You also receive matching to other testers (with any Y test) which can be very genealogically relevant, plus bonus Y STR markers with the Y-500.

OK, But Why Do Different Companies Give Me Different Haplogroup Results?

Great question.

For this example, let’s say your haplogroup is H1a2a.

Let’s say that Company 1 uses a chip that they’ve programmed to test to the H1a level of haplogroup H1a2a.

Let’s say that Company 2 uses a chip that they’ve programmed to test to the H1 level of haplogroup H1a2a.

Let’s say that you take the full sequence test with Family Tree DNA and they fully test all 15,659 locations of your mitochondria and determine that you are H1a2a.

Company 1 will report your mitochondrial haplogroup as H1a, Company 2 as H1 and Family Tree DNA as H1a2a.

With mitochondrial DNA, you can at least see some consist pathway in naming practices, meaning H, H1, H1a, etc., so you can tell that you’re on the same branch.

With Y DNA, the only consistent part is the base haplogroup.

With Y DNA, let’s say that Company 1 programs their chip to test for specific SNP locations, and they return a Y DNA haplogroup of R-L21.

Company 2 programs their chip to test for fewer or different locations and they return a Y DNA haplogroup of R-M269.

You purchase a Big Y-500 test at Family Tree DNA, and they return your haplogroup as R-CTS3386.

All three haplogroups can be correct, as far as they go. It’s just that they don’t test the same distance down the Y chromosome tree.

R-M269, R-L21 and R-CTS3386 are all increasingly smaller branches on the Y haplotree.

Furthermore, for both Y and mitochondrial DNA, there is always a remote possibility that a critical location won’t be able to be read in your DNA sample that might affect your haplogroup.

Obtaining Your Haplogroup

I strongly encourage people to test with and upload to only well-known major companies or organizations. Some companies provide haplogroup information that is simply wrong.

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

I provide Personalized DNA Reports for Y and mitochondrial DNA results for people who have tested through Family Tree DNA. I provide Quick Consults for DNA questions for people who have tested with any vendor. I would welcome the opportunity to provide one of these services for you.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

In the recent article about Oxford Ancestors shuttering, I briefly mentioned GDPR. I’d like to talk a little more about this today, because you’re going to hear about it, and I’d rather you hear about it from me than from a sky-is-falling perspective.

It might be rainy and there is definitely some thunder and the ground may shake a little, but the sky is not exactly falling. The storm probably isn’t going to be pleasant, however, but we’ll get through it because we have no other choice. And there is life after GDPR, although in the genetic genealogy space, it may look a little different.

There are actually two similar, but somewhat different regulations, one for the UK and one for the EU’s 28 member states, but the regulations are collectively referred to as the GDPR regulation.

Ok, so far so good.

The regulations are directly enforceable and do not require any individual member government to pass additional legislation.

GDPR was adopted on April 27, 2016, but little notice was taken until the last few months, especially outside of Europe, when the hefty fines drew attention to the enforcement date of May 25, 2018, now just around the corner.

Those hefty fines can range from a written warning for non-intentional noncompliance to a fine of 20 million Euro or up to 4% of the annual worldwide turnover of the preceding financial year, whichever is GREATER. Yea, that’s pretty jaw-dropping.

So, GDPR has teeth and is nothing to be ignored.

Oh, and if you think this is just for EU or UK companies, it isn’t. It applies equally to any company that possesses any data of any EU or UK resident in their data base or files, providing that person isn’t dead. The law excludes dead people and makes some exceptions for law enforcement and other national security types of applications.

Otherwise, it applies to everyone in a global economy – and not just for future sales, but to already existing data for anyone who stores, transmits, sells to or processes data of any EU resident.

What Does GDPR Do?

The intent of GDPR was to strengthen privacy and data protections, but there is little latitude written into this regulation that allows for intentional sharing of data. The presumption throughout the hundreds of pages of lawyer-speak is that data is not intended to be shared, thereby requiring companies to take extraordinary measures to encrypt and anonymize data, even going so far as to force companies to store e-mail addresses separately from any data which could identify the person. Yes, like a name, or address.

Ironic that a regulation that requires vendor language be written in plainly understood simple wording is in and of itself incredibly complex, mandating legal interpretation.

Needless to say, GDPR requirements are playing havoc with every company’s data bases and file structure, because information technology goals have been to simplify and unify, not chop apart and distribute information, requiring a complex network of calls between systems.

Know who loves GDPR? Lawyers and consultants, that’s who!

In the case of intentional sharing, such as genetic genealogy, these regulations are already having unintended consequences through their extremely rigid requirements.

For example, a company must appoint a legal representative in Europe. I am not a lawyer, but my reading of this requirement suggests that European appointed individual (read, lawyer) is absorbing some level of risk and could potentially be fined as a result of their non-European client’s behavior. So tell me, who is going to incur that level of risk for anything approaching a reasonable cost?

One of the concepts implemented in GDPR is the colloquially known “right to be forgotten.” That means that you can request that your data and files be deleted, and the company must comply within a reasonable time.

However, what does “the right to be forgotten” mean, exactly? Does it mean a company has to delete your public presence? What about their internal files that record that you WERE a customer. What about things like medical records? What about computer backups which are standard operating procedure for any responsible company? What happens when a backup needs to be restored? If the company tracks who was deleted, so they can re-delete them if they have to restore from backup, then the person isn’t deleted in the first place and they are still being tracked – even though the tracking is occurring so the person can be re-forgotten.

Did you follow that? Did it make sense? Did anyone think of these kinds of things?

Oh, and by the way, there is no case law yet, so every single European company and every single non-European company that has any customer base in Europe is scrambling to comply with an incredibly far-reaching and harsh regulation with extremely severe potential consequences.

How many companies do you think can absorb this expenditure? Who do you think will ultimately pay?

Younger people may not remember Y2K, but I assuredly do, and GDPR is Y2K on steroids and with lots of ugly teeth in the form of fines and penalties that Y2K never had. The worse scenario for Y2K was that things would stop working. GDPR can put you out of business in the blink of an eye.

The “controller” is pretty well defined as the company that receives and processes the data or order, and a “processor” is any other entity, including an individual person, who further processes data on behalf of or as a result of the controller.

There appears to be no differentiation between a multi-million-dollar company and one person doing something as a volunteer at home for most requirements – and GDPR specifically says that lack of pay does not exempt someone from GDPR. The one possible exception that exists in that there is an exclusion for organizations employing less than 250 persons, ”unless processing is likely to result in a risk to the rights and freedoms of the data subject.” I’m thinking that just mentioning the word DNA is enough to eliminate this exemption.

Furthermore, GDPR states that controllers and processors must register.

Right about now, you’re probably asking yourself if this means you if you’re managing multiple DNA kits, working with genetic genealogy, either as a volunteer or professionally, or even managing a group project or Facebook group.

The answer to those questions is that but we really don’t know.

ISOGG has prepared a summary page addressing GDPR from the genetic genealogy perspective, here. The ISOGG working group has done an excellent job in summarizing the questions, requirements and potential effects of the legislation in the slide presentation, which I suggest you take the time to view.

This legislation clearly wasn’t written considering this type of industry, meaning DNA shared for genealogical purposes, and there has been no case law yet surrounding GDPR. No one wants to be the first person to discover exactly how this will be interpreted by the courts.

The requirements for controllers and processors are much the same and include very specific requirements for how data can be stored and what must be done in terms of the “right to be forgotten” requests within a reasonable time, generally mentioned as 30 days after the person who owns the data requests to be forgotten. This would clearly apply to some websites and other types of resources used and maintained by the genetic genealogy community. If you are one of the people this could affect, meaning you maintain a website displaying results of some nature, you might want to consider these requirements and how you will comply. Additionally, you are required to have explicitly given consent for every person’s results that are displayed.

For genetic genealogists, who regularly share information through various means, and the companies who enable this technology, GDPR is having what I would very generously call a wet blanket effect.

What’s Happening in the Genetic Genealogy Space?

So far, we’ve seen the following:

Oxford Ancestors has announced they are shuttering, although they did not say that their decision has anything to do with GDPR. The timing may be entirely coincidental.

Full Genomes Corporation has announced on social media that they are no longer accepting orders from EU or UK customers, stating that “the regulatory cost is too high for a small company” and is “excessive.” I would certainly agree with that. Update; On 3-31-2018 Justin Loe, CEO of Full Genomes says that they “will continue to sell into the EU via manual process.”

Ancestry has recently made unpopular decisions relative to requiring separate e-mails to register different accounts, even if the same person is managing multiple DNA kits. Ancestry did not say this had to do with GDPR either, but in reading the GDPR requirements, I can understand why Ancestry felt compelled to make this change.

Family Tree DNA recently removed a search feature from their primary business page that allowed the public to search for their ancestors in trees posted to accounts at Family Tree DNA. According to an e-mail sent to project administrators, this change was the result of changes required by GDPR. They too are working on compliance.

I haven’t had an opportunity to speak privately with LivingDNA or 23andMe, but I would presume both are working on compliance. LivingDNA is a UK company.

One of my goals recently when visiting RootsTech was to ask vendors about their GDPR compliance and concerns. That’s the one topic sure to wipe the smile off of everyone’s face, immediately, generally followed by grimaces, groans and eye-rolls until they managed to put their “public face” back on.

In general, vendors said they were moving towards compliance but that it was expensive, difficult and painful – especially given the ambiguity in some of the regulation verbiage. Some expressed concerns that GDPR was only a first step and would be followed by even more painful future regulations. I would presume that any vendor who is not planning to become compliant would not have spent the money to have a booth at RootsTech.

The best news about GDPR is that it requires transparency – in other words, it’s supposed to protect customers from a company selling your anonymized DNA out the back door without your explicitly given consent, for example. However, the general consensus was that any company that wanted to behave in an unethical manner would find a loophole to do so, regardless of GDPR.

In fairness, hurried consumers bring this type of thing on themselves by clicking through the “consent,” or “agree” boxes without reading what they are consenting to. All the GDPR in the world won’t help this. The company may have to disclose, but the consumer doesn’t have to read, although GDPR does attempt to help by forcing you to actively click on agree.

I’m sure we’ll all be hearing more about GDPR in the next few weeks as the deadline looms ever closer.

May 25, 2018

Now you know!

There’s nothing you can do about the effects of GDPR, except hold on tight as the vendors on which we depend do their best to navigate this maze.

Between now and May 25th, and probably for some time thereafter, I promise to be patient and not to complain about glitches in vendors’ systems as they roll out new code as seamlessly as possible.

Gluttons for Punishment

For those of you who are really gluttons for punishment, here are the actual links to the documents themselves. Of course, they are also guaranteed to put you to sleep in about 27 second flat…so a sure cure for insomnia.

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

Day 3 at RootsTech was characterized by meeting lots of people, talking to several vendors and a party. Plus, I finally got to attend a session. Yes, really!

Ok, confession, I offered to help the presenter in order to garner a seat in the room. It was well worth a small amount of effort on my part to be able to see Bennett Greenspan, CEO and founder of Family Tree DNA present on The DNA of the Jewish People.

For those who don’t know, Bennett and his partner Max Blankfeld are the founding fathers of the direct to consumer genetic industry with the birth of Family Tree DNA 18 years ago.

I love Bennett’s DNA tie!

Even though Family Tree DNA hosts the annual conference for project administrators, Bennett has never presented at his own conference. I’ve heard him present once before, and he’s one of two speakers whose sessions I’d attend if they were talking about making mud pies. (Judy Russell is the other one.)

Bennett certainly didn’t let the audience down.

He began by telling folks how, just before his bar mitzva, his grandmother passed away. At the cemetery, his mother took his hand and walked him around, introducing him to the graves and family members buried there. Bennett didn’t realize how many relatives they had in Kansas.

Later that day, as family members arrived at the house to console the family, Bennett walked from person to person interviewing them about their memories of the “old country.” Bennett said, in their thick old-world accents, they told him about various family members, providing a link back in time.

Bennett then drew his first pedigree chart. I’m just amazed that he still HAS this chart. Thankfully, someone saved it. Little did he know how prophetic this would be or what staying power it would have. Nor could he have ever dreamt that his genealogy addiction was destined to someday change the world for all genealogists.

Indeed, Bennett was hooked at a very young age.

After Bennett sold his photographic supply company about 20 years ago, he became “too helpful” at home, offering to reorganize his wife’s pantry, and let’s just say that he got sent to his room. However, it just happens that in the room were his boxes of genealogy and well…history was about to be written.

In 1996 and 1997, Bennett had read two academic studies written about Y DNA in men. The first study was about the Jewish Cohen lineage, and the second was about the Jefferson males and Sally Hemmings.

Bennett’s Jewish family was torn apart by WWII and those who survived were scattered to the winds. This history makes genealogy particularly difficult for Jewish people, both the record destruction in Europe and the fact that the family remnants are so widely scattered and often lost to each other.

In Bennett’s case, he found a Nitz family in Argentina that claimed to be from the same village as his maternal grandmother’s Nitz family, and he wanted to verify that it was the same family by Y DNA testing – just like the Cohen study and the Jefferson/Hemmings case.

Bennett called Dr. Michael Hammer at the University of Arizona who was one of the authors on the Cohen paper, and whose lab had processed the samples. Dr. Hammer told Bennett that they only did academic processing, not for consumers. Bennett asked Dr. Hammer where he could turn to write a check and get an answer, but Dr. Hammer informed Bennett that such a company or location didn’t exist. Little did Dr. Hammer know that Bennett was an entrepreneur whose wife had banished him to timeout, in essence because he “retired” too young and was bored and underfoot.

Bennett’s question about his Nitz line was indeed answered by a perfect Y DNA match. Indeed, it was the same family line!

Bennett then proceeded to search for Greenspan males, but that answer didn’t arrive for more than another decade. Bennett tested a lot of Greenspans, but it wasn’t until he met a Mr. Green at a conference that he found a match.

Jewish men fall into specific haplogroups or clusters, sometimes referred to as clans, on the Y DNA phylotree. The same is true for mtDNA, but that wasn’t the topic of his presentation.

Therefore, by testing a male, you can tell by his haplogroup and his matches whether or not he is Jewish.

The Ashkenazi and Sephardic Jews are very similar in their haplogroup breakdown and distribution, as are the rest of the non-Jewish residents of the Middle East.

They do, after all, originally descend from the same ancestors.

You can see the difference in the haplogroup spread between the people with Middle Eastern heritage, above, and the Ukraine, below.

These slides refute the theory that the Russian Khazars converted to Judaism en masse and subsequently migrated to eastern Europe. If this were the case, the DNA of the Ashkenazi Jews would be split much more closely along Ukrainian lines than Middle Eastern lines, and you can see for yourself which pie chart the Ashkenazi population more closely resembles.

The real message here is that thanks to DNA testing, we know that the sons of the Levant are far more alike than different – and that the Ashkenazi Jews are indeed from the Middle East and not from Russia.

Bennett’s family is from Eastern Europe, so the last thing he expected to discover was that his family was actually a displaced Sephardic line – but alas, through DNA matching and following the path of the DNA, that’s exactly what Bennett discovered.

As Bennett said, it rocked his world. No oral history reflected the 1492 expulsion of his family from Spain. This information gave him a new lens into the fate of his family when the Jews were displaced from Spain, penniless, their property confiscated, and leaving hurriedly to avoid death.

Bennett may never know their names, but he knows where they traveled on their long, perilous journey of over 2000 years from the Levant to Spain, then to Eastern Europe and finally into Argentina and the States.

I’ve summarized Bennett’s presentation significantly, but Bennett’s family history, revealed by Y DNA is a powerful story of family reunification.

Meet and Greet

In the Starbucks in the hotel, my 7th cousin, Laurel, found me and we talked about our common genealogy in Wilkes County, NC – the Sarah Rash (1748-1829) and Robert Shepherd (1739-1817) lines. If these are your lines too, please give a shout out.

I discovered that Laurel is going to be returning to Wilkes County for additional research, and she discovered that I know the location of the now-bulldozed-into-the-creek cemetery. Yes, we’re going to exchange information.

We’ve actually chatted a few times over the past few days and I’ve enjoyed it immensely.

On to the conference.

By day 3, I’ve finally developed a sense, at least somewhat, of the lay of the land. RootsTech is massive and the convention center is laid out anything but intuitively.

I walked by the theater in Lisa Louise Cooke’s genealogy Gems booth and caught a sentence where the presenter was explaining about cluster research, also known as FAN – friends and neighbors. In essence, people traveled in packs and you’ll tend to find them together. I wanted to agree vehemently, but did so silently and was very glad to see others listening attentively.

On down the aisle, I spotted an ad for DNA charts. As irritating as I find the ethnicity estimates, I must admit, these are really attractive.

However, I then spied the wall chart.

How fun is this? A gift maybe? How about adding the haplogroup for each person on the chart? So many possibilities. I can see a wall…

Speaking of walls, Living DNA created a “photo booth” in their booth, and David Nicholson, one of the Living DNA Founders and I hammed it up a bit. It’s always nice to meet the people who own and run the various companies. David and I have spoken and skyped previously, but never managed to be in the same place at the same time until now.

Most of the DNA vendors had long lines throughout the conference. That’s the good news, because no matter where you’ve tested, you’ll be getting new matches soon.

I stood in line to purchase a Living DNA kit for a friend, so I eaves-dropped anonymously.

Living DNA indicates that they provide a “3 in one” test, meaning autosomal ethnicity estimates (no matching yet, but anticipated this year), a mitochondrial haplogroup for your direct matrilineal line, and if you are a male, a Y DNA haplogroup for your paternal line.

For the sake of clarity, men receive 3, but women receive a “2 in one” since they have no Y chromosome.

I’m still hoping to be able to connect and have a few minutes to sit down and discuss Living DNA development for 2018. Hopefully maybe tomorrow.

By now everyone should know that I find the full Y and mitochondrial DNA test, which provides you with actual test results and matching for those lines, extremely beneficial. I want to be very clear that knowing your Y and mtDNA haplogroup is very interesting and can be useful, but it’s not the same thing as receiving the actual results which can provide you with a significant history, along with matching.

Y and mitochondrial DNA is not an alternative to autosomal DNA testing, but these types of DNA tests supplement and enhance each other.

Of the major vendors, Family Tree DNA is the only vendor who offers that level of testing and has a data base for Y and mitochondrial DNA matching.

I’m so grateful that Family Tree DNA continues to offer these tests, although the autosomal market clearly outstrips the Y and mtDNA market. At trade shows, I think offering multiple types of tests is actually a detriment to Family Tree DNA, because they have to take time to educate their customers as to the different types of DNA that can be tested, ask about their goals, and then advise as to the appropriate test for the customer’s specific situation.

Above, in the Family Tree DNA booth, Bennett Greenspan is explaining the various types of tests to a potential customer.

Ran into Tom MacEntee again. It’s too bad he blends into the background and is so shy. Wait till you see what he’s wearing at the party later in the evening. OK, OK, I’ll shown you now.

Tom looks stunning in his tiara, doesn’t he!

Now, in the gratitude department – meet Dave Robison.

Dave introduced himself to me by saying something like, “You don’t know me, but you were such an inspiration to me when I was just getting started.” I was kind of taken aback, but then he continued by saying that he was somewhat doubtful of where he was “going,” so to speak, and that he had e-mailed me and I had answered him. From that, he decided that if I could do this, so could he, and lo and behold, he has, in spades.

Dave is now a professional genealogist who also donates a great deal of his time to several genealogical organizations. Please check out Dave’s story here.

Part of Dave’s trip to Salt Lake was to visit the Family History Library to perform some client work. On Saturday, I escaped to the library as well. (Don’t worry, you’re going along.) As luck would have it, we both found ourselves having lunch at the closest restaurant. Of course, we broke bread (or ate salad actually) together and had a lovely, lovely meal. I can’t wait to see Dave again.

Dave’s introduction moved me greatly. So often, we really never know the extent of the difference a kind word at the right time and place may make to someone.

I’m very grateful for Dave telling me, because it’s all too easy to be grouchy and tired when answering the 235th e-mail of the day.

I’m so pleased to have a new friend too.

Wandering on down the aisle, my eye was drawn to a ring that looked like it might be a helix. Could it be?

I do sometimes think I’m married to DNA.

Whoever thought you’d see the day when helix jewelry was available in a bead booth?

Anyone watch Relative Race? BYU TV describes this show as, “With their own DNA as a roadmap, and $25,000 on the line, four couples must race coast-to-coast and discover a different relative every day.”

The season premier is March 4th!

Do they actually drive these brightly colored cars in the series? Obviously, I’ve never watched. Clue me in, someone…

Next, I had an amazing surprise.

Last summer, when Jim and I were in Europe chasing my ancestors across the continent, we met a lovely couple on the same journey. We enjoyed several meals together, parting ways and promising to keep in touch, with the best of intentions. However, life just got in the way, until today.

I looked up, and there stood my friend, Lisa Hunt. Of course, entirely out of context, I recognized her but for a moment, was somewhat confused. It’s a very long way from the Rhine River to Salt Lake City.

As it turns out, Lisa was at the conference hoping to meet up with a new cousin and stumbled across me! No, I’m not the cousin.

If you have a tree at Family Search, and you register for the conference, the app will search your tree and the trees of other attendees and tell you how many cousins you have at RootsTech, who they are and how you are related – with the idea that you can find each other. What fun!

As luck would have it, Jim Brewster who presented at RootsTech (and works for Family Tree DNA) is my cousin through the William Brewster line. For those who don’t know, William Brewster is one of the Mayflower passengers. Ironically, I applied last week to join this society, right after I documented my line in order to join the Mayflower DNA Project at Family Tree DNA. Do you have any Mayflower ancestors?

I came to RootsTech with a list of vendors that I absolutely wanted to see and meet. Pierre Cloutier who wrote Charting Companion was one of those people. I’ve used this product for years to produce great charts and reports. It works with almost any genealogy software!

If you’re trying to figure out where a DNA tester places in a group of other testers, the McGuire Method will be helpful, and Pierre has automated this methodology. Thank you, Pierre!

Flapper Party

Apparently, the MyHeritage After-Party has become a RootsTech tradition, even though this is only the third year.

I found more photos online of the party than of any other single conference related event last year, and maybe more than all vendors and sessions combined.

Who says genealogists are boring people?

Yes, indeed, the party this year was themed. Fortunately, you didn’t have to dress the part to attend, but many did. I also discovered, albeit too late, that Salt Lake City has a costume rental where you can rent and return. I’ll file that one away for future use! I wonder what they have in “DNA.”

The best part of this party was networking with others. I’ll introduce you to a few people you may know from their blogs and online presence.

Leah LePerle Larkin, who blogs as The DNA Geek, and I are cousins several times over through our Acadian lines. One day, when we have a breather, maybe we’ll actually figure out exactly how many times we’re related. Acadian lines are like that.

We’ve known each other online for years now, and finally had a chance to sit down at a table and actually talk. No, not at the party, earlier.

From left to right, front row, Angie Bush, genetic genealogist with ProGenealogists, Leah LaPerle Larkin, me. Rear, left to right, Rob Warthen and Richard Weiss with DNAadoption and DNAGedcom and Jony Perle of DNAPainter fame, peeking over the top.

Upon arrival, supplies were provided at a craft table to create hats and headbands. When you’re late, you get to celebrate your Native heritage by sticking some feathers in your hair. That was fine with me. However, my headband was too tight, so I dispensed with the headband and instead, liberated an orange feather centerpiece to use as a “parasol.” Hey, be creative and go big or stay home.

To be clear, Richard had not sprouted an orange bird on this head – that’s my parasol in my hand positioned on his shoulder.

Richard is a far more talented dancer than I am, but I had loads of fun anyway! This is one place where, thankfully, you don’t have to be good to have fun.

Jessica Taylor with Legacy Tree Genealogists, at left, with unknown people at right and a special friend. I’m sure there’s a story, I just don’t happen to know what it is!

Line dancing, disco lights and costumes.

A huge thank you to our host, Gilad Japhet, CEO and founder of MyHeritage.

Tomorrow, you’re going with me to visit the Family History Library! Never been there? Neither have I!

_____________________________________________________________________

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Across the rooftop, you can see two churches in front of the mountain.

Day 2 was jam packed, and that’s without attending any sessions. I did hear through the RootsTech grapevine that some of the afternoon sessions did have a few seats available. Of course, you would need to select the right sessions.

There’s a lot of very unhappy rumbling here about the conference: lines, full sessions, lack of signage, etc.

There are probably hundreds of booths. Some quite large, of course, like FamilySearch (show sponsor), Ancestry and the other big players, to Mom and Pop shops.

I managed to visit maybe half of the booths today. I’ll try for the other half tomorrow. I am going to make myself absent for part of the day to visit the Family History Library.

I noticed a LOT of vendors offering products to digitize and catalog your photos. Others encouraged recording memories and of course, given that we’re in Salt Lake, there was lots of focus on the Mormon faith and many obviously local vendors.

In addition to the sessions, there was a vendor demo area in the rear of the hall. I wandered past a couple of times, but the two vendors I saw didn’t really catch my eye.

At the Legacy Tree Genealogists booth, I found Jessica Taylor (at left, beside me), Paul Woodbury and Amber Brown (far right). (I apologize for not getting the lady’s name at the far left.) Jessica is the owner and founder of Legacy Tree Genealogists, Paul Woodbury is the amazing genetic genealogist that specializes in adoptee and missing parent family reconstruction and Amber Brown is their marketing representative. They were kind enough to give me with a RootsTech survival basket. I’ve never been to a conference before where you needed one of these, and by the end of the day, I was extremely grateful.

A really big thank you Jessica and crew!

Next, I ran into my old friend, Peter Roberts, at the conference as a volunteer for WikiTree, a free site for you to upload your family tree and collaborate with other genealogists. I’ve known Peter for years from the Family Tree DNA annual conference where he is the project administrator for the Bahamas DNA Project.

Peter took the time to sit down with me and explain some of the new DNA features at WikiTree that include Y DNA, mitochondrial, autosomal and most recently, the ability to link your WikiTree tree to your DNAPainter profile. WikiTree utilizes various types of DNA information to support or disprove ancestral connections.

Peter and I also discussed that putting information like links to any articles or blog posting you have written about your ancestors into the description area about each ancestor would be a great idea! I was thinking about the 52 Ancestors series, of course.

I briefly met Chris Whitten, founder of WikiTree, but I wasn’t quick enough to grab a photo.

Speaking of DNAPainter, Jony Pearl, from England, won the Innovation Showcase with DNAPainter. I’ve been using this extremely useful tool for about a month now, and I have an article half written. I’ll be finishing it as soon as I get home. You’re going to love this tool!

Congratulations Jony! Well deserved.

This conference has lots of beginners. FamilySearch had a very large area called the Discovery Zone. Just walking past, I did notice people entirely engrossed and making discoveries.

One of the Discovery Zone areas encouraged you to take your photo, or a group photo, with a backdrop of your choice.

I couldn’t resist. Plus, it’s free and the results are messaged to your phone immediately.

I was amazed to find this backdrop, given that I have actually stood in exactly this place in Germany – in real life. In fact, I can tell you there are two lovely lace shops just past that clock tower arch, one on either side of the street, and a quilt shop just beyond. In fact it was right here that the quilt shop-owner’s husband came riding up on his bicycle to deliver our purchases at the end of the day.

A few minutes later, I came across MYndVault, a digital cloud storage solution that includes servers stores in the granite mountain.

To prove his point, the founder of MYndVault was giving little boxes of granite – well, chocolate that looked like granite anyway. The chocolate was great – and everyone needs to think about this type of “inheritance issue.” It’s not just cloud storage, but an electronic directive that lists your personal representative, things like social media accounts and passwords. Obviously, I suggested that he add a specific field for DNA results at vendors, but there is already ample room to include this in non-specific fields.

There were lots of “charts” vendors in attendance, but I particularly liked this one from BranchesArt.

I’ve been wanting to meet Lara Diamond, who blogs at Lara’s Jewnealogy. Lara is Jewish and specializes in endogamous DNA and the inherent frustrations therein.

The lovely thing about meeting in person is that you actually get to talk to the individual. Lara tested with 23andMe initially and it was that test (before the FDA restricted the information they could provide to consumers) that led her to discover she had both a mutation for cancer, and cancer itself. Take a minute and read Lara’s story here. DNA testing very literally saved her life!

Lara will be writing about a super-cool record find soon that defies all logic. Right, Lara, right???

Next was the MyHeritage lunch, where I was thrilled to meet Randy Seaver, finally, in person.

My joke is that I wake up each morning to Randy, because that’s when I read his blog, Genea-Musings, every day. Randy writes more quality content than any other blogger I know. In fact, he has a great compendium of RootsTech conference articles that you can check out on his blog yesterday and today.

Gilad and I had a personal meeting later in the day, and he gave me permission to share the slides from the luncheon with my readers.

I must say, MyHeritage is making very big waves in the genealogy community.

For a company that just started DNA testing about 18 months ago, and had significant startup challenges with matching, they’ve come a very, very long way.

First, Gilad announced a new initiative to test 15,000 adoptees or those seeking unknown parents by donating free kits. You can read more about this program here or apply to receive a kit. Those with financial need will receive priority.

Third, they announced the publication of a paper culminating from 7 years of research, published today, discussing 86 million family trees from Geni and the patterns that emerge from this much data about migration and families. For example, exceptional genetics only adds abut 5 years to life expectancy, but poor lifestyle habits can deduct 10.

They are on a tear, I’m telling you. They weren’t done yet.

Fourth, they announced that they are adding new records at an amazing pace. Three new collections, including the digitization and indexing of high school yearbooks from the US.

Fifth – new advancements in genetic genealogy.

MyHeritage has observed that many people don’t understand the details of genetic genealogy or how to use the tools. Additionally, many people don’t have or create family trees.

MyHeritage has created what they call “The Big Tree” where all of their customers are connected in one large “tree of humanity,” or at least as much of humanity as has tested or uploaded to MyHeritage. They then look at how your own node is connected to others in that large tree and distill the results into something useful for you.

The next step, Gilad calls the “Theory of Family Relativity,” where MyHeritage combines your DNA matches, their trees and documents from their collection to construct a theoretical tree between you and your matches.

The connection may need to go up and down other people’s trees a couple of times, and may be discovered in the tree of someone you both match.

In summary, “The Theory of Family Relativity” will provide a paper trail theory for how you match your DNA matches. That theory will be for you to confirm or disprove. Gilad says that it’s easier with a tree, but can be accomplished at some level even without one AND it will be released before year end 2018.

Sixth, a new triangulated chromosome browser that compared up to 7 people simultaneously.

Downloads are being added as well.

MyHeritage is focusing a marketing drive in Europe. Their market research revealed that in Germany (I think,) only 22% of the population had even heard of DNA testing. Their goal is to infiltrate that market space.

France Gilad…focus on France😊

Gilad has christened 2018 “The Year of the Segment.”

And as if that wasn’t enough, Gilad added even MORE items.

Paper trail theories and connections to explain DNA matches.

Theories genetically of how your matches connect to you.

Clustering of triangulated segments.

Automatic chromosome painting.

Identification and recreation of ancestors through the testing of multiple descendants by creating an “ancestral segment bank,” of sorts.

Resurrecting the DNA of dead ancestors which would be made into a kit for matching. For example, your grandfather.

Automatic tree building.

If you’re sitting there with your mouth hanging open in shock…well, so was I. This is what I’ve talked about for years, now coming to fruition.

Gilad credits these strides to a combination of vision, applied technology and very smart people!

All of these development items are either in beta or past proof of concept. Some are available now, some shortly, the “Tree of Family Relativity” by the end of 2018.

Truthfully, I don’t even know what to say after that massive announcement, except transfer your DNA results to MyHeritage. If you ever had doubt, it’s gone now.

Finishing Up

In the Innovation Showcase competition, obviously DNAPainter won first place, but the rest of the entrants also deserve recognition. Rootsfinder and ItRunsInMyFamily took second and third. You may want to go and take a look for yourself.

I have not had a chance to review these myself, so you’ll have to let me know what you think.

Apparently LivingDNA made an announcement as well. Many vendors make private appointments with bloggers, movers and shakers at RootsTech. In the past few days I’ve been fortunate enough to have private meetings with Ancestry, Family Tree DNA and MyHeritage. Living DNA is not on that list. I did stop by their booth today, but the right people weren’t there.

We’ve known for some time that matching was to be released in 2018, but we didn’t know that LivingDNA planned to reconstruct trees from genetic data alone, with no trees or other information involved.

Every year for the past 17 years has been the year of DNA for me, but for many millions, 2017 has been the year of DNA. DNA testing has become a phenomenon in its own right.

It was in 2013 that Spencer Wells predicted that 2014 would be the “year of infection.” Spencer was right and in 2014 DNA joined the ranks of household words. I saw DNA in ads that year, for the first time, not related to DNA testing or health as in, “It’s in our DNA.”

In 2014, it seemed like most people had heard of DNA, even if they weren’t all testing yet. John Q. Public was becoming comfortable with DNA.

In 2017 – DNA Is Mainstream

If you’re a genealogist, you certainly know about DNA testing, and you’re behind the times if you haven’t tested. DNA testing is now an expected tool for genealogists, and part of a comprehensive proof statement that meets the genealogical proof standard which includes “a reasonably exhaustive search.” If you haven’t applied DNA, you haven’t done a reasonably exhaustive search.

A paper trail is no longer sufficient alone.

When I used to speak to genealogy groups about DNA testing, back in the dark ages, in the early 2000s, and I asked how many had tested, a few would raise their hands – on a good day.

In October, when I asked that same question in Ireland, more than half the room raised their hand – and I hope the other half went right out and purchased DNA test kits!

Consequently, because the rabid genealogical market is now pretty much saturated, the DNA testing companies needed to find a way to attract new customers, and they have.

2017 – The Year of Ethnicity

I’m not positive that the methodology some of the major companies utilized to attract new consumers is ideal, but nonetheless, advertising has attracted many new people to genetic genealogy through ethnicity testing.

If you’re a seasoned genetic genealogist, I know for sure that you’re groaning now, because the questions that are asked by disappointed testers AFTER the results come back and aren’t what people expected find their way to the forums that genetic genealogists peruse daily.

More ethnicity results are available from vendors and third parties alike – just about every place you look it seems. It appears that lots of folks think ethnicity testing is a shortcut to instant genealogy. Spit, mail, wait and voila – but there is no shortcut. Since most people don’t realize that until after they test, ethnicity testing is becoming ever more popular with more vendors emerging.

In the spring, LivingDNA began delivering ethnicity results and a few months later, MyHeritage as well. Ethnicity is hot and companies are seizing a revenue opportunity.

Now, the good news is that perhaps some of these new ethnicity testers can be converted into genealogists. We just have to view ethnicity testing as tempting bait, or hopefully, a gateway drug…

2017 – The Year of Explosive Growth

DNA testing has become that snowball rolling downhill that morphed into an avalanche. More people are seeing commercials, more people are testing, and people are talking to friends and co-workers at the water cooler who decide to test. I passed a table of diners in Germany in July to overhear, in English, discussion about ethnicity-focused DNA testing.

If you haven’t heard of DTC, direct to consumer, DNA testing, you’re living under a rock or maybe in a third world country without either internet or TV.

Most of the genetic genealogy companies are fairly closed-lipped about their data base size of DNA testers, but Ancestry isn’t. They have gone from about 2 million near the end of 2016 to 5 million in August 2017 to at least 7 million now. They haven’t said for sure, but extrapolating from what they have said, I feel safe with 7 million as a LOW estimate and possibly as many as 10 million following the holiday sales.

Advertising obviously pays off.

MyHeritage recently announced that their data base has reached 1 million, with only about 20% of those being transfers.

Based on the industry rumble, I suspect that the other DNA testing companies have had banner years as well.

The good news is that all of these new testers means that anyone who has tested at any of the major vendors is going to get lots of matches soon. Santa, it seems, has heard about DNA testing too and test kits fit into stockings!

That’s even better news for all of us who are in multiple data bases – and even more reason to test at all of the 4 major companies who provide DNA matching for their customers: Family Tree DNA, Ancestry, MyHeritage and 23andMe.

2017 – The Year of Vendor and Industry Churn

So much happened in 2017, it’s difficult to keep up.

MyHeritage entered the DNA testing arena and began matching in September of 2016. Frankly, they had a mess, but they have been working in 2017 to improve the situation. Let’s just say they still have some work to do, but at least they acknowledge that and are making progress.

MyHeritage has a rather extensive user base in Europe. Because of their European draw, their records collections and the ability to transfer results into their data base, they have become the 4th vendor in a field that used to be 3.

In March 2017, Family Tree DNA announced that they were accepting transfers of both the Ancestry V2 test, in place since May of 2016, along with the 23andMe V4 test, available since November 2013, for free. MyHeritage has since been added to that list. The Family Tree DNA announcement provided testers with another avenue for matching and advanced tools.

Illumina obsoleted their OmniExpress chip, forcing vendors to Illumina’s new GSA chip which also forces vendors to use imputation. I swear, imputation is a swear word. Illumina gets the lump of coal award for 2017.

I wrote about imputation here, but in a nutshell, the vendors are now being forced to test only about 20% of the DNA locations available on the previous Illumina chip, and impute or infer using statistics the values in the rest of the DNA locations that they previously could test.

Early imputation implementers include LivingDNA (ethnicity only), MyHeritage (to equalize the locations of various vendor’s different chips), DNA.Land (whose matching is far from ideal) and 23andMe, who seems, for the most part, to have done a reasonable job. Of course, the only way to tell for sure at 23andMe is to test again on the V5 chip and compare to V3 and V4 chip matches. Given that I’ve already paid 3 times to test myself at 23andMe (V2, 3 and 4), I’m not keen on paying a 4th time for the V5 version.

23andMe moved to the V5 Illumina GSA chip in August which is not compatible with any earlier chip versions.

Needless to say, the Illumina chip change has forced vendors away from focusing on new products in order to develop imputation code in order to remain backwards compatible with their own products from an earlier chip set.

GedMatch introduced their sandbox area, Genesis, where people can upload files that are not compatible with the traditional vendor files. This includes the GSA chip results (23andMe V5,) exome tests and others. The purpose of the sandbox is so that GedMatch can figure out how to work with these files that aren’t compatible with the typical autosomal test files. The process has been interesting and enlightening, but people either don’t understand or forget that it’s a sandbox, an experiment, for all involved – including GedMatch. Welcome to living on the genetic frontier!

I assembled a chart of who loves who – meaning which vendors accept transfers from which other vendors.

I suspect but don’t know that Ancestry is doing some form of imputation between their V1 and V2 chips. About a month before their new chip implementation in May of 2016, Ancestry made a change in their matching routine that resulting in a significant shift in people’s matches.

Because of Ancestry’s use of the Timber algorithm to downweight some segments and strip out others altogether, it’s difficult to understand where matching issues may arise. Furthermore, there is no way to know that there are matching issues unless you and another individual have transferred results to either Family Tree DNA or GedMatch, neither of which remove any matching segments.

Other developments of note include the fact that Family Tree DNA moved to mitochondrial DNA build V17 and updated their Y DNA to hg38 of the human reference genome – both huge undertakings requiring the reprocessing of customer data. Think of both of those updates as housekeeping. No one wants to do it, but it’s necessary.

23andMe FINALLY finished transferring their customer base to the “New Experience,” but many of the older features we liked are now gone. However, customers can now opt in to open matching, which is a definite improvement. 23andMe, having been the first company to enter the genetic genealogy autosomal matching marketspace has really become lackluster. They could have owned this space but chose not to focus on genealogy tools. In my opinion, they are now relegated to fourth place out of a field of 4.

Ancestry has updated their Genetic Communities feature a couple of times this year. Genetic Communities is interesting and more helpful than ethnicity estimates, but neither are nearly as helpful as a chromosome browser would be.

I’m sure that the repeated requests, begging and community level tantrum throwing in an attempt to convince Ancestry to produce a chromosome browser is beyond beating a dead horse now. That dead horse is now skeletal, and no sign of a chromosome browser. Sigh:(

The good news is that anyone who wants a chromosome browser can transfer their results to Family Tree DNA or GedMatch (both for free) and utilize a chromosome browser and other tools at either or both of those locations. Family Tree DNA charges a one time $19 fee to access their advanced tools and GedMatch offers a monthly $10 subscription. Both are absolutely worth every dime. The bad news is, of course, that you have to convince your match or matches to transfer as well.

If you can convince your matches to transfer to (or test at) Family Tree DNA, their tools include phased Family Matching which utilizes a combination of user trees, the DNA of the tester combined with the DNA of family matches to indicate to the user which side, maternal or paternal (or both), a particular match stems from.

Sites to keep your eye on include Jonny Perl’s tools which include DNAPainter, as well as Goran Rundfeldt’s DNA Genealogy Experiment. You may recall that in October Goran brought us the fantastic Triangulator tool to use with Family Tree DNA results. A few community members expressed concern about triangulation relative to privacy, so the tool has been (I hope only temporarily) disabled as the involved parties work through the details. We need Goran’s triangulation tool! Goran has developed other world class tools as well, as you can see from his website, and I hope we see more of both Goran and Jonny in 2018.

In 2017, a number of new “free” sites that encourage you to upload your DNA have sprung up. My advice – remember, there really is no such thing as a free lunch. Ask yourself why, what’s in it for them. Review ALL OF THE documents and fine print relative to safety, privacy and what is going to be done with your DNA. Think about what recourse you might or might not have. Why would you trust them?

My rule of thumb, if the company is outside of the US, I’m immediately slightly hesitant because they don’t fall under US laws. If they are outside of Europe or Canada, I’m even more hesitant. If the company is associated with a country that is unfriendly to the US, I unequivocally refuse. For example, riddle me this – what happens if a Chinese (or fill-in-the-blank country) company violates an agreement regarding your DNA and privacy? What, exactly, are you going to do about it from wherever you live?

2017 – The Year of Marketplace Apps

Third party genetics apps are emerging and are beginning to make an impact.

GedMatch, as always, has continued to quietly add to their offerings for genetic genealogists, as had DNAGedcom.com. While these two aren’t exactly an “app”, per se, they are certainly primary players in the third party space. I use both and will be publishing an article early in 2018 about a very useful tool at DNAGedcom.

Another application that I don’t use due to the complex setup (which I’ve now tried twice and abandoned) is Genome Mate Pro which coordinates your autosomal results from multiple vendors. Some people love this program. I’ll try, again, in 2018 and see if I can make it all the way through the setup process.

The real news here are the new marketplace apps based on Exome testing.

Helix and their partners offer a number of apps that may be of interest for consumers. Helix began offering a “test once, buy often” marketplace model where the consumer pays a nominal price for exome sequencing ($80), significantly under market pricing ($500), but then the consumer purchases DNA apps through the Helix store. The apps access the original DNA test to produce results. The consumer does NOT receive their downloadable raw data, only data through the apps, which is a departure from the expected norm. Then again, the consumer pays a drastically reduced price and downloadable exome results are available elsewhere for full price.

The Helix concept is that lots of apps will be developed, meaning that you, the consumer, will be interested and purchase often – allowing Helix to recoup their sequencing investment over time.

Aside from the Insitome apps, I think that the personalized clothes are cute, if extremely overpriced. But what the heck, they’re fun and raise awareness of DNA testing – a good thing! After all, who am I to talk, I’ve made DNA quilts and have DNA clothing too.

Having said that, I’m extremely skeptical about some of the other apps, like “Wine Explorer.” Seriously???

But then again, if you named an app “I Have More Money Than Brains,” it probably wouldn’t sell well.

Other apps, like Ancestry’s WeRelate (available for smartphones) is entertaining, but is also unfortunately EXTREMELY misleading. WeRelate conflates multiple trees, generally incorrectly, to suggest to you and another person on your Facebook friends list are related, or that you are related to famous people. Judy Russell reviews that app here in the article, “No, actually, we’re not related.” No. Just no!

I feel strongly that companies that utilize our genetic data for anything have a moral responsibility for accuracy, and the WeRelate app clearly does NOT make the grade, and Ancestry knows that. I really don’t believe that entertaining customers with half-truths (or less) is more important than accuracy – but then again, here I go just being an old-fashioned fuddy dud expecting ethics.

And then, there’s the snake oil. You knew it was going to happen because there is always someone who can be convinced to purchase just about anything. Think midnight infomercials. The problem is that many consumers really don’t know how to tell snake oil from the rest in the emerging DNA field.

You can now purchase DNA testing for almost anything. Dating, diet, exercise, your taste in wine and of course, vitamins and supplements. If you can think of an opportunity, someone will dream up a test.

How many of these are legitimate or valid? Your guess is as good as mine, but I’m exceedingly suspicious of a great many, especially those where I can find no legitimate scientific studies to back what appear to be rather outrageous claims.

My main concern is that the entire DTC testing industry will be tarred by the brush of a few unethical opportunists.

2017 – The Year of Focus on Privacy and Security

With increased consumer exposure comes increased notoriety. People are taking notice of DNA testing and it seems that everyone has an opinion, informed or not. There’s an old saying in marketing; “Talk about me good, talk about me bad, just talk about me.”

With all of the ads have come a commensurate amount of teeth gnashing and “the-sky-is-falling” type reporting. Unfortunately, many politicians don’t understand this industry and open mouth only to insert foot – except that most people don’t realize what they’ve done. I doubt that the politicians even understand that they are tasting toe-jam, because they haven’t taken the time to research and understand the industry. Sound bites and science don’t mix well.

The bad news is that next, the click-bait-focused press picks up on the stories and the next time you see anyone at lunch, they’re asking you if what they heard is true. Or, let’s hope that they ask you instead of just accepting what they heard as gospel. Hopefully if we’ve learned anything in this past year, it’s to verify, verify, verify.

I’ve been an advocate for a very long time of increased transparency from the testing companies as to what is actually done with our DNA, and under what circumstances. In other words, I want to know where my DNA is and what it’s being used for. Period.

Bennett Greenspan: “We could probably make a lot of money by selling the DNA data that we’ve been collecting over the years, but we feel that the only person that should have your DNA information is you. We don’t believe that it should be sold, traded or bartered.”

You can’t get more definitive than that.

DTC testing for genetic genealogy must be a self-regulating field, because the last thing we need is for the government to get involved, attempting to regulate something they don’t understand. I truly believe government interference by the name of regulation would spell the end of genetic genealogy as we know it today. DNA testing for genetic genealogy without sharing results is entirely pointless.

I’ve written about this topic in the past, but an update is warranted and I’ll be doing that sometime after the first of the year. Mostly, I just need to be able to stay awake while slogging through the required reading (at some vendor sites) of page after page AFTER PAGE of legalese😊

Consumers really shouldn’t have to do that, and if they do, a short, concise summary should be presented to them BEFORE they purchase so that they can make a truly informed decision.

Stay tuned on this one.

2017 – The Year of Education

The fantastic news is that with all of the new people testing, a huge, HUGE need for education exists. Even if 75% of the people who test don’t do anything with their results after that first peek, that still leaves a few million who are new to this field, want to engage and need some level of education.

In that vein, seminars are available through several groups and institutes, in person and online. Almost all of the leadership in this industry is involved in some educational capacity.

In addition to agendas focused on genetic genealogy and utilizing DNA personally, almost every genealogy conference now includes a significant number of sessions on DNA methods and tools. I remember the days when we were lucky to be allowed one session on the agenda, and then generally not without begging!

When considering both DNA testing and education, one needs to think about the goal. All customer goals are not the same, and neither are the approaches necessary to answer their questions in a relevant way.

New testers to the field fall into three primary groups today, and their educational needs are really quite different, because their goals, tools and approaches needed to reach those goals are different too.

Adoptees and genealogists employ two vastly different approaches utilizing a common tool, DNA, but for almost opposite purposes. Adoptees wish to utilize tests and trees to come forward in time to identify either currently living or recently living people while genealogists are interested in reaching backward in time to confirm or identify long dead ancestors. Those are really very different goals.

I’ve illustrated this in the graphic above. The tester in question uses their blue first cousin match to identify their unknown parent through the blue match’s known lineage, moving forward in time to identify the tester’s parent. In this case, the grandparent is known to the blue match, but not to the yellow tester. Identifying the grandparent through the blue match is the needed lynchpin clue to identify the unknown parent.

The yellow tester who already knows their maternal parent utilizes their peach second cousin match to verify or maybe identify their maternal great-grandmother who is already known to the peach match, moving backwards in time. Two different goals, same DNA test.

The three types of testers are:

Curious ethnicity testers who may not even realize that at least some of the vendors offer matching and other tools and services.

Genealogists who use close relatives to prove which sides of trees matches come from, and to triangulate matching segments to specific ancestors. In other words, working from the present back in time. The peach match and line above.

Adoptees and parent searches where testers hope to find a parent or siblings, but failing that, close relatives whose trees overlap with each other – pointing to a descendant as a candidate for a parent. These people work forward in time and aren’t interested in triangulation or proving ancestors and really don’t care about any of those types of tools, at least not until they identify their parent. This is the blue match above.

What these various groups of testers want and need, and therefore their priorities are different in terms of their recommendations and comments in online forums and their input to vendors. Therefore, you find Facebook groups dedicated to Adoptees, for example, but you also find adoptees in more general genetic genealogy groups where genealogists are sometimes surprised when people focused on parent searches downplay or dismiss tools such as Y DNA, mitochondrial DNA and chromosome browsers that form the bedrock foundation of what genealogists need and require.

Fortunately, there’s room for everyone in this emerging field.

The great news is that educational opportunities are abundant now. I’m listing a few of the educational opportunities for all three groups of testers, in addition to my blog of course.😊

Remember that this blog is fully searchable by keyword or phrase in the little search box in the upper right hand corner. I see so many questions online that I’ve already answered!

About midyear 2018, this blog will reach 1000 published articles. This is article number 939. That’s amazing even to me! When I created this blog in July of 2012, I wasn’t sure I’d have enough to write about. That certainly has changed.

Beginning shortly, the tsunami of kits that were purchased during the holidays will begin producing matches, be it through DNA upgrades at Family Tree DNA, Big Y tests which were hot at year end, or new purchases through any of the vendors. I can hardly wait, and I have my list of brick walls that need to fall.

Family Tree DNA will be providing additional STR markers extracted from the Big Y test. These won’t replace any of the 111 markers offered separately today, because the extraction through NGS testing is not as reliable as direct STR testing for those markers, but the Big Y will offer genealogists a few hundred more STRs to utilize. Yes, I said a few hundred. The exact number has not yet been finalized.

Family Tree DNA says they will also be introducing new “qualify of life improvements” along with new privacy and consent settings. Let’s hope this means new features and tools will be released too.

MyHeritage says that they are introducing new “Discoveries” pages and a chromosome browser in January. They have also indicated that they are working on their matching issues. The chromosome browser is particularly good news, but matching must work accurately or the chromosome browser will show erroneous information. Let’s hope January brings all three features.

LivingDNA indicates that they will be introducing matching in 2018.

2018 – What Can You Do?

What can you do in 2018 to improve your odds of solving genealogy questions?

Test relatives

Transfer your results to as many data bases as possible (among the ones discussed above, after reading the terms and conditions, of course)

If you have transferred a version of your DNA that does not produce full results, such as the Ancestry V2 or 23andMe V4 test to Family Tree DNA, consider testing on the vendor’s own chip in order to obtain all matches, not just the closest matches available from an incompatible test transfer.

Find ways to share the stories of your ancestors. Stories are cousin bait. My 52 Ancestors series is living proof. People find the stories and often have additional facts, information or even photos. Some contacts qualify for DNA testing for Y or mtDNA lines. The GREAT NEWS is that Amy Johnson Crow is resuming the #52Ancestors project for 2018, providing hints and tips each week! Who knows what you might discover by sharing?! Here’s how to start a blog if you need some assistance. It’s easy – really!

Focus on the brick walls that you want to crumble and then put together both a test and analysis plan. That plan could include such things as:

o Find out if a male representing a Y line in your tree has tested, and if not, search through autosomal results to see if a male from that paternal surname line has tested and would be amenable to an upgrade.

o Mitochondrial DNA test people who descend through all females from various female ancestors in order to determine their origins. Y and mtDNA tests are an important part of a complete genealogy story – meaning the reasonably exhaustive search!

o Autosomal DNA test family members from various lines with the hope that matches will match you and them both.

o Test family members in order to confirm a particular ancestor – preferably people who descend from another child of that ancestor.

o Making sure your own DNA is in all 4 of the major vendors’ data bases, plus GedMatch. Look at it this way, everyone who is at GedMatch or at a third party (non-testing) site had to have tested at one of the major 4 vendors – so if you are in all of the vendor’s data bases, plus GedMatch, you’re covered.

Have a wonderful New Year and let’s make 2018 the year of newly discovered ancestors and solved mysteries!

_____________________________________________________________________

Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

Now that DNA testing has gone mainstream, with more and more people interested and testing – it’s the perfect time to purchase kits for yourself and family.

Remember, genetic genealogy is a team sport and the more people who test, the more successful everyone will be!

This is the first year that there have been numerous companies having pre-holiday sales, Black Friday sales, Cyber Sales and any other kind of sale they can have to attract attention. A rose by any other name is still a sale😊

My first suggestion is to stay mainstream. Because of the popularity of DNA testing, many new companies are jumping on the bandwagon with somewhat questionable products. Don’t get caught up purchasing something you really didn’t mean to purchase and whose results are sketchy, at best.

Therefore, I’m listing the companies I consider to be mainstream below, whether or not I’m 100% comfortable with their products or terms and conditions. As always, the companies I link to, I do recommend and feel that their products bring the best value to consumers transparently and without other agendas. You can read more about the individual companies and their products as I’ve discussed their products and services over time by utilizing the little search icon at the right hand side of the blog page.

Who To Test With?

My recommendation is to unquestionably take the following genealogy tests, minimally:

Family Tree DNA has announced a Black Friday sale on their Family Finder autosomal test priced at $49 which you can order here.

However, many other tests are on sale as well and will continue to be on sale throughout the holiday season.

Family Tree DNA’s holiday sale began on November 12th and will continue through the end of the year. Sale items include Y and mitochondrial DNA, their autosomal Family Finder test, and some upgrades – most notably – the Big Y which includes a free upgrade to a 111 STR test.

Their autosomal Family Finder test includes ethnicity, matching to relatives as well as a dozen or so tools to help you with your genealogy.

Family Tree DNA is definitely the most sophisticated testing company, providing the most tools without the need for an added subscription.

In addition to their Holiday Sale, they post a Holiday Rewards coupon to the personal page of everyone who have already tested. I provide mine from the multiple accounts I manage weekly for people to share.

23andMe is offering their autosomal test which includes ethnicity and matching at the price of 2 for $49 each for their Ancestry Service kit which is genealogy only, without the health traits. Their Health plus Ancestry remains at its normal price.

Be sure to review the terms and conditions carefully before purchase to assure that you are comfortable with the ways in which your DNA may be shared with other entities.

Genographic Project

The Genographic Project kit which provides ethnicity plus Y (males only) and mitochondrial DNA haplogroups (males and females) regularly for $99.95, but reduced to $69 this weekend. The Genographic project does not provide matching but does support open research.

This price reflects that the Helix processing and kit is actually free, and you are only paying for the Genographic app.

LivingDNA

The LivingDNA test which provides ethnicity results focused on the British Isles plus Y (males only) and mitochondrial DNA haplogroups (males and females) is regularly offered for $159, but is $89 for Black Friday.

Insitome

First purchase only, $80 off plus free shipping. What this really means is that you are receiving the Helix text kit for free and are only paying for the Insitome app, which is ALSO on sale.

Insitome is announcing today that they are adding a third product focusing on Regional Ancestry.

Want a sneak peek? Here you go, compliments of Insitome!

In addition to the map above, testers will be receiving a migration map as well

I don’t have my own results yet to share with you, but as soon as I do, guaranteed, I’ll be writing an article.

You can order the Regional Ancestry product now for $19.99, but results won’t be available for delivery until around January 8th. The best deal is this weekend, but after Cyber Monday, the Ancestry Regional app is still on sale, as follows

From Black Friday – Cyber Monday

You get a free Helix DNA kit + shipping

First time purchasers get it for $19.99

2nd time purchasers get it for $19.99

From Tuesday, November 28th – December 12th

You get free shipping from Helix

First time purchasers get it for $59.99

2nd time purchasers get it for $19.99

I don’t think the $19 price is supposed to be available until Black Friday, but I notice it’s available now if you click on the “Order for myself” button through this link. The price is adjusted in the shopping car. Click here to order.

Legacy Tree Genealogists

Legacy Tree Genealogists doesn’t do DNA testing, but they do a great job of genealogy research, especially if you have a brick wall. In my case, this occurs with overseas research where I don’t know the language, the customs or even where records are kept.

Legacy Tree’s DNA related specialty is with adoptee and missing parent searches. Their staff does include an awesome specialist in this type of research, Paul Woodbury.

To purchase genealogy research, or to obtain a quote, click here and use the code CYBER100 to obtain $100 off through November 29th. If you miss the Cyber Sale, you can always get $50 off by using this link and telling them Roberta referred you.

DNAGeeks

New to the scene, DNAGEEKS, founded by geneticists David Mittelman and Razib Kahn, doesn’t offer a DNA test, but does offer DNA themed garb, gadgets and coming soon, educational items. As everyone knows, I’m a HUGE fan of education and anything to encourage people to ask questions and become interested in DNA and DNA testing is wonderful

My personal favorite item is the orange helix t-shirt – and yes, I’m ordering one. Not even waiting for Santa!

I suggested to David Mittelman, that I would really like a helix cover for my iPhone. A few hours later, he e-mailed me with this new product. I’m so geeked – pardon the pun. The great news is that you can order one too!

What do you think? Your phone is the ONE thing everyone sees – so why not make a statement!

To order either the t-shirt or the phone case, click on this link, then Products, then Science Outreach Gear – but wait, there’s a coupon too.

A big thank you to DNAGEEKS for a special coupon only for my blog followers that gets you 15% off of anything Black Friday through Cyber Monday – just enter the following coupon code at checkout:

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

Until recently, the word imputation wasn’t a part of the vocabulary of genetic genealogy, but earlier this year, it became a factor and will become even more important in coming months.

Illumina, the company that provides chips to companies that test autosomal DNA for genetic genealogy has obsoleted their OmniExpress chip previously in use, forcing companies to utilize their new Global Screening Array (GSA) chip when their current chip supply runs out.

Only about 20% of the DNA locations previously tested by genetic genealogy companies are tested on this new platform. Illumina has encouraged vendors to utilize the process called imputation to infer DNA results for their customers that are common in populations, but has not been directly tested in customer’s DNA, in order for vendors to achieve backwards compatibility with people previously tested on the OmniExpress chip. You can read the technical details of imputation in a document produced by Illumina here.

LivingDNA, who was developing and launching a new product during the transition time between chips was the first vendor out the gate with a GSA product. Illumina represented imputation to be “very accurate” to LivingDNA, which is consequently how they represented the results to a group of genetic genealogists on a conference call in early 2017. LivingDNA was the lucky company to have the opportunity to “work the bugs out” with Illumina – said with tongue firmly in cheek. LivingDNA provides a list of papers describing their methods here.

Another company, MyHeritage also uses imputation, for an entirely different reason. My Heritage uses imputation to “add” to the DNA results of people who upload results from different vendors. They are the first company to attempt DNA matching between people using imputation, and they initially had and continue to have matching issues. In their initial release blog in September 2016, they state that imputation matching “is accomplished with very high accuracy.” In their Q&A blog in November 2016, they state that “imputation may introduce errors so we are in the process of fine-tuning it.” They have made changes since matching was originally introduced, but they still struggle with matching accuracy, most recently discussed by Leah Larkin in her article, MyHeritage Matching.

DNA.LAND does not perform testing, but is a nonprofit in the health care industry who utilizes imputation for health-related research – imputing approximately 38.3 million locations in addition to the 700,000 locations in customers’ uploaded files. In order to encourage people to upload their test results, DNA.LAND performs matching and ethnicity reporting. Like MyHeritage, their matching results are problematic. DNA.LAND explains about imputation and summarizes by stating that “any reported value should never be taken as-is without further careful analysis.” I will be publishing an article shortly about DNA.LAND.

23andMe, on August 9, 2017, released their V5 product utilizing the new GSA chip. They have not said how they are addressing the imputation challenge and backward compatibility. Several issues have been reported.

As you can see, the genetic genealogy landscape is changing and like it or not, imputation is a part of the new scenery.

What, Exactly, is Imputation?

Imputation is the process whereby your DNA is tested and then the results “expanded” by inferring results for additional locations, meaning locations that haven’t been tested, by using information from results you do have. In other words, the DNA is adjacent locations is predicted, or imputed, by their association with their traveling companions. In DNA, traveling companions are often known to travel together, but not always.

2 – that people from common populations share a significant amount of the same DNA

An example that DNA.LAND provides is the following sentence.

I saw a blue ca_ on your head.

There are several letters that are more likely that others to be found in the blank and some words would be more likely to be found in this sentence than others.

A less intuitive sentence might be:

I saw a blue ca_ yesterday.

DNA.LAND also says very clearly that imputed values can be incorrect. They also state that the values inferred are the common values, not rare mutations, and imputed results are most accurate in Caucasian populations and least accurate in African populations whose DNA is the most variant of any continental group. They caution against using these results for medical diagnosis.

Looking at this Autosomal SNP Comparison Chart, provided by the ISOGG Wiki, you can see the difference in the number of actual common locations tested by the various vendors.

This means that companies that allow uploads from different vendors utilizing widely divergent chip results have to do something in order to successfully compare the disparate files against each other for matching. Using 23andMe as an example, even though they don’t allow uploads from other companies, they have to do something to accommodate matching between the new GSA V5 chip and their earlier V3 and V4 chips.

Imputation Example

Let’s take a look at how imputation is used to “equalize” files uploaded from various vendors that only contain marginal amounts of overlap.

I’m using MyHeritage as an example. Imputation, in this case, is utilized in an attempt to make marginally compatible files more compatible.

The files from the Ancestry V2 kit and the Family Tree DNA kit have only about 382,000 locations in common, meaning about 300,000 locations are not in common. In order to attempt to equalize these and other kits, MyHeritage attempts to use imputation to deduce the DNA that a tester would/should/might have in the missing segments, based on various statistical factors that include the tester’s population and existing DNA.

Please note that for purposes of concept illustration, I have shown all of the common locations, in blue, as contiguous. The common locations are not contiguous, but are scattered across the entire range that each vendor tests.

You can see that the number of imputed locations for matching between two people, shown in tan, is larger than the number of actual matching locations shown in blue. The amount of actual common data being compared is roughly 382,000 of 1,100,000 total locations, or 35%.

Stay tuned for an upcoming series of articles about imputation and results in various scenarios.